Active clinical trials for "Congenital Abnormalities"

The National Rare Diseases plans, the ongoing MALFPULM PHRC and thoracoscopic advents in children, are remarkable improvements in understanding and managing lung malformations. The resection of these malformations is now proposed in most cases to avoid infections which are difficult to treat and to diagnose or to avoid exceptional tumors. Procedures are ideally performed around the age of 5-6 months to take advantage of the lung growth that continues during the first two years of life. The surgical strategies depend of the malformation size, the tumor risk and surgeon choice: conservative surgery with removal of part of the lobe may be preferred over complete resection of the concerned lobe. If possible, thoracoscopic resection is carried out. The open thoracotomy is more painful and leads to complications such as thoracic deformities, larger scars, blood loss. However, in infants the thoracoscopic work space is small, lung exclusion is challenging and the anatomy (normal or malformative) is difficult to understand in space. The rate of thoracoscopy without conversion to thoracotomy ranges from 98% in one American center with a more radical approach , to 48% in a national cohort. Pulmonary exclusion failure, complexity and size of malformations and intra-operative complications are factors of conversion to thoracotomy . These factors can lead surgeons to perform thoracotomy without attempting thoracoscopy. 3D printing is a thriving research field for its educational or therapeutic potential optimization of management, prosthesis, and organ replacement. 3D printing is particularly adapted to pediatrics, which suffers from the rarity of its pathologies and a large spectrum of size and morphology prohibiting the mass production of models. 3D printing models of complex pulmonary pathologies will allowed for a better anesthetic and surgical approach. The modeling of bronchial, vascular and even parenchymatous anatomy permits a better understanding of the anatomical particularities of each patient. This, in turn, avoids the intra-operative conversions to thoracotomy with a direct benefit for the patient.

The "North Carolina Clinical Genomic Evaluation by Next-gen Exome Sequencing, 2 (NCGENES 2)" study is part of a larger consortium project investigating the clinical utility, or net benefit of an intervention on patient and family well-being as well as diagnostic efficacy, management planning, and medical outcomes. A clinical trial will be implemented to compare (1) first-line exome sequencing to usual care and (2) participant pre-visit preparation to no pre-visit preparation. The study will use a randomized controlled design, with 2x2 factorial design, coupled with patient-reported outcomes and comprehensive clinical data collection addressing key outcomes, to determine the net impact of diagnostic results and secondary findings.

The Biobank includes data and biological specimens of women from three original studies: 1) First-trimester Prediction of Preeclampsia (PREDICTION Study, NCT02189148), 2) Pre-Eclampsia And growth Retardation, an evaluative Longitudinal study (PEARL Study, NCT02379832), 3) Effect of Low Dose Aspirin on Birthweight in Twins: The GAP Trial (NCT02280031) and 4)PREDICTION2: Prediction of Preeclampsia and other Pregnancy Complications Following Combined Iterative Screening.

The purpose of this study is to measure functional activity and stability in spinal deformity patients utilizing motion analysis testing and accelerometers.

The Heartland Study is a prospective, observational study that will enroll up to 2,600 pregnant participants across the Heartland States in the U.S.. The objective of the Heartland Study is to address major knowledge gaps concerning the health effects of herbicides on maternal and infant health. The study is being conducted to evaluate the associations between environmental exposures to herbicides during and after pregnancy and reproductive health outcomes. The study is measuring multiple biomarkers of herbicide exposure among pregnant Midwesterners and their partners to evaluate associations with pregnancy and childbirth outcomes, epigenetic biomarkers of exposure, and child development.

Approximately 340 babies are born with Hirschsprung's disease (HSCR) or an anorectal malformation (ARM) per year in the UK. Most require corrective surgery in the newborn or early infancy period. In both conditions, there is both variability in the severity of the condition and the type of operative technique used. Many children do well following surgery and have good continence in later life. However a significant proportion of children suffer from a lifetime of constipation or incontinence. This has a significant impact on their social and psychological welfare and is a significant burden on healthcare resources. Due to the variation in practice, there are limited data on long-term outcomes following surgery for children with HSCR or ARMs. Where studies have been performed, they often include small numbers, non-standardised outcome measures and short follow-up periods. It is therefore difficult to ascertain the effectiveness of different management strategies. However, a recent Delphi process has been carried out to establish 10 core measures in HSCR to improve outcome reporting. This research group has a long track record in this research area, specifically in the determination of long-term outcomes of children with HSCR, leading to well cited papers within the literature. In the last 2 decades there has been a significant change in the surgical techniques used in HSCR, however the underlying evidence base for this is still lacking. This study seeks to follow-on from previous studies looking specifically at the long-term outcomes in children with HSCR. Furthermore, the aim is to widen the study to encompass all children treated at Alder Hey and also to use the same methodology to assess long-term outcomes for children with ARMs, as both groups of patients experience similar long term morbidity. This will provide qualitative and quantitative data aiding counselling parents of children with HSCR/ARM.

The purpose of this study is to investigate the role of multimodal CT in evaluating and predicting different clinical outcomes in patients with unruptured brain arteriovenous malformations with medical management alone. This study will be undertaken in the following aspects: Morphological, structural and imaging histological signal analysis based on multimodal CT to explore the relationship between imaging features and different clinical outcomes of bAVMs. Hemodynamic and flow pattern analysis of local and peripheral bAVMs based on multimodal CT to explore the association between blood flow features and different clinical outcomes. Based on multimodal CT and deep learning algorithms to create an automated segmentation model for bAVMs and a prediction model for distinct clinical outcomes. The obtained patient information includes: Baseline information, CT, MRI, DSA (Optional), and follow-up information. Follow-up will be undertaken at 6 months, 12 months, 24 months and 36 months after enrollment with the following primary observation. Main observation endpoints: Hemorrhage events associated with bAVMs New epilepsy symptoms or exacerbations New neurological dysfunction(including motor dysfunction, cognitive dysfunction, etc).

The right ventricular (RV) systolic function is a key determinant of outcome in patients with pulmonary hypertension and elevated pulmonary vascular resistance. As the pulmonary artery pressure and vascular resistance increase (i.e. RV afterload) in these patients, so does the right ventricular contractility in an attempt to maintain cardiac output. This is response of a ventricle to its afterload is termed ventriculo-arterial (VA) coupling. However, there is a limit to this increase in contractility after which VA uncoupling occurs ultimately leading to decrease cardiac output and right ventricular failure. The accepted gold standard for measurement of VA coupling is the ratio of the end systolic ventricular elastance (Ees) to the end systolic arterial elastance (Ea) measured invasively via high fidelity conductance catheters during cardiac catheterization. In this study, the aim is to devise a non-invasive scoring system that can identify VA uncoupling in patients with elevated pulmonary vascular resistance using echocardiography, cardiac MRI, cardiopulmonary exercise testing and brain natriuretic peptide levels. The hypothesis is that a group of morphologic and functional variables obtained noninvasively can differentiate an RV with VA coupling from that with VA uncoupling.

Number of centres planned : 16 centres in France Type of study / Study design : Research Involving the Human Person category 2. Multicentric. Prospective Planning of the study : Total duration: 22 years. Recruitment period: 24 months. Follow-up time per patients : 20 years Expected number of cases : 300 index cases: 150 single index cases and 150 trio families Treatment, procedure, combination of procedures under consideration : Blood samples for genetic analyses collected at the inclusion visit for patients and parents in case of trio families Schedule of different visits and examinations : Inclusion visit: Collection of demographic, clinical data from the index case and parents DNA sampling for genetic research (biocollection) of the index case or family trio Completion of the quality of life questionnaire Annual visit with a 20 year follow-up: Retrieval of data from the index case Completion of the quality of life questionnaire

The present study intends to: 1）establish a multi-center large-sample randomized controlled trial to explore the technical advantages and surgical indications of the novel surgical technique of CLIF correction for ASD compared with the conventional correction strategy; 2）analyze the postoperative clinical and imaging results, and to explore the related complications and preventive measures; 3） establish 2-year follow-up to further quantify the clinical and radiographical outcomes of CLIF correction.